Incidental Mutation 'R0046:Col6a6'
ID 43720
Institutional Source Beutler Lab
Gene Symbol Col6a6
Ensembl Gene ENSMUSG00000043719
Gene Name collagen, type VI, alpha 6
Synonyms E330026B02Rik
MMRRC Submission 038340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0046 (G1)
Quality Score 97
Status Validated
Chromosome 9
Chromosomal Location 105687809-105828160 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 105748848 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]
AlphaFold Q8C6K9
Predicted Effect probably benign
Transcript: ENSMUST00000098441
SMART Domains Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 3.3e-9 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166431
SMART Domains Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
VWA 24 197 4.26e-26 SMART
VWA 226 407 1.06e-30 SMART
VWA 433 610 5.19e-39 SMART
VWA 619 795 3.58e-42 SMART
VWA 806 982 6.64e-37 SMART
VWA 997 1175 2.7e-37 SMART
VWA 1184 1370 3.45e-1 SMART
Pfam:Collagen 1389 1450 9.3e-10 PFAM
low complexity region 1451 1475 N/A INTRINSIC
low complexity region 1490 1508 N/A INTRINSIC
low complexity region 1602 1623 N/A INTRINSIC
low complexity region 1698 1724 N/A INTRINSIC
VWA 1754 1937 1.73e-17 SMART
VWA 1962 2145 4.4e-19 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 (GRCm38) K135* probably null Het
Adamts16 A G 13: 70,763,460 (GRCm38) S871P probably benign Het
Adcy10 A T 1: 165,539,834 (GRCm38) I558F probably damaging Het
Adsl T G 15: 80,962,788 (GRCm38) probably null Het
Aldob T C 4: 49,543,842 (GRCm38) I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 (GRCm38) E46G probably damaging Het
Ankrd33b G A 15: 31,367,337 (GRCm38) P19L probably damaging Het
Apoa5 T C 9: 46,269,998 (GRCm38) L124S probably damaging Het
Atp1a4 A T 1: 172,240,097 (GRCm38) L533Q probably benign Het
Atp7b T C 8: 22,059,995 (GRCm38) T9A probably benign Het
Auh G A 13: 52,929,385 (GRCm38) probably benign Het
B3gnt3 T C 8: 71,692,923 (GRCm38) Y267C probably damaging Het
BC051142 T C 17: 34,460,121 (GRCm38) probably null Het
Card11 T C 5: 140,908,524 (GRCm38) T117A possibly damaging Het
Ccdc39 A G 3: 33,844,152 (GRCm38) F15L possibly damaging Het
Chtf18 C T 17: 25,723,460 (GRCm38) R468Q probably benign Het
Cntnap5c T G 17: 58,359,300 (GRCm38) D1108E probably benign Het
Col14a1 G A 15: 55,408,963 (GRCm38) probably benign Het
Col9a3 G A 2: 180,609,487 (GRCm38) A317T possibly damaging Het
Cpt1c A T 7: 44,959,832 (GRCm38) probably benign Het
Cpt2 A G 4: 107,904,362 (GRCm38) probably null Het
Crebrf T A 17: 26,763,334 (GRCm38) L565M probably damaging Het
Cyp2d41-ps T A 15: 82,782,035 (GRCm38) noncoding transcript Het
Dhx9 C T 1: 153,472,707 (GRCm38) V291M probably benign Het
Dmxl1 T A 18: 49,878,082 (GRCm38) V1102E probably benign Het
Dnah7a A T 1: 53,456,874 (GRCm38) probably null Het
Dock4 G A 12: 40,737,360 (GRCm38) probably benign Het
Dpp3 G T 19: 4,914,643 (GRCm38) N545K probably damaging Het
Elmo2 T A 2: 165,298,726 (GRCm38) N275I probably damaging Het
Farp1 A G 14: 121,255,513 (GRCm38) K509R probably benign Het
Fat3 T C 9: 15,965,979 (GRCm38) Y3446C possibly damaging Het
Fgd2 T A 17: 29,374,990 (GRCm38) probably benign Het
Flg T A 3: 93,277,721 (GRCm38) probably benign Het
Gas2l2 A T 11: 83,421,910 (GRCm38) W859R probably damaging Het
Gatm T C 2: 122,600,744 (GRCm38) D254G probably damaging Het
Gjd4 T A 18: 9,280,998 (GRCm38) I27F probably damaging Het
Gsdmc2 C A 15: 63,827,755 (GRCm38) probably benign Het
Haus5 C T 7: 30,654,180 (GRCm38) V591I probably benign Het
Kcnab3 G A 11: 69,330,227 (GRCm38) probably null Het
Khdrbs2 A G 1: 32,619,202 (GRCm38) D281G possibly damaging Het
Krt86 A T 15: 101,477,402 (GRCm38) M393L probably benign Het
Limk1 T C 5: 134,672,761 (GRCm38) Y96C probably damaging Het
Lrp2bp T A 8: 46,013,155 (GRCm38) Y100* probably null Het
Mamstr T G 7: 45,641,770 (GRCm38) probably benign Het
Man1a A G 10: 53,919,187 (GRCm38) Y657H probably damaging Het
Marf1 G A 16: 14,111,727 (GRCm38) P1672S possibly damaging Het
Mboat7 T C 7: 3,683,818 (GRCm38) Y341C probably damaging Het
Nhsl1 A T 10: 18,525,669 (GRCm38) N881I probably damaging Het
Nox3 T C 17: 3,682,961 (GRCm38) Y225C probably benign Het
Nrp1 C T 8: 128,500,608 (GRCm38) probably benign Het
Olfr1080 A G 2: 86,553,632 (GRCm38) F164S probably damaging Het
Olfr1214 C T 2: 88,987,349 (GRCm38) M284I probably benign Het
Olfr1260 C T 2: 89,978,507 (GRCm38) T243I probably damaging Het
Olfr1458 G A 19: 13,103,278 (GRCm38) R3C possibly damaging Het
Olfr742 T A 14: 50,516,139 (GRCm38) *312K probably null Het
Pcdhb13 A T 18: 37,444,257 (GRCm38) M563L probably benign Het
Pclo C T 5: 14,540,479 (GRCm38) T931M unknown Het
Peli2 C T 14: 48,121,202 (GRCm38) P16S possibly damaging Het
Pfas G T 11: 68,990,467 (GRCm38) R1025S probably benign Het
Pik3c2a A T 7: 116,354,072 (GRCm38) I1196N probably damaging Het
Pmfbp1 A T 8: 109,535,985 (GRCm38) probably benign Het
Prg4 T C 1: 150,456,086 (GRCm38) T279A possibly damaging Het
Psma1 A T 7: 114,267,205 (GRCm38) probably benign Het
Rab11fip1 A G 8: 27,153,121 (GRCm38) L550P probably damaging Het
Rgs12 T A 5: 34,965,320 (GRCm38) I149N probably damaging Het
Rmnd5a T C 6: 71,399,231 (GRCm38) H195R probably damaging Het
Rnf17 T C 14: 56,471,373 (GRCm38) L750P probably damaging Het
Rtcb T C 10: 85,957,656 (GRCm38) N18D probably benign Het
Seh1l T C 18: 67,792,016 (GRCm38) probably null Het
Sis T G 3: 72,932,094 (GRCm38) N813T probably benign Het
Sptbn2 T C 19: 4,745,377 (GRCm38) probably benign Het
Stag3 C T 5: 138,283,023 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Taok3 C T 5: 117,272,229 (GRCm38) Q829* probably null Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Ttn A G 2: 76,951,542 (GRCm38) probably benign Het
Unc79 A G 12: 103,125,681 (GRCm38) E1756G probably damaging Het
Usp35 A T 7: 97,313,597 (GRCm38) probably null Het
Vmn2r111 A G 17: 22,548,009 (GRCm38) F836L probably benign Het
Vmn2r77 A G 7: 86,801,938 (GRCm38) D344G possibly damaging Het
Zbtb40 A G 4: 136,987,278 (GRCm38) C1067R probably damaging Het
Other mutations in Col6a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Col6a6 APN 9 105,758,191 (GRCm38) critical splice acceptor site probably null
IGL00768:Col6a6 APN 9 105,782,412 (GRCm38) missense probably benign 0.04
IGL00917:Col6a6 APN 9 105,784,254 (GRCm38) splice site probably benign
IGL01385:Col6a6 APN 9 105,783,666 (GRCm38) missense probably damaging 1.00
IGL01411:Col6a6 APN 9 105,785,958 (GRCm38) nonsense probably null
IGL01508:Col6a6 APN 9 105,727,166 (GRCm38) splice site probably benign
IGL01668:Col6a6 APN 9 105,709,271 (GRCm38) missense probably damaging 1.00
IGL01733:Col6a6 APN 9 105,709,255 (GRCm38) missense possibly damaging 0.92
IGL01932:Col6a6 APN 9 105,689,626 (GRCm38) missense probably benign 0.02
IGL01934:Col6a6 APN 9 105,698,659 (GRCm38) critical splice donor site probably null
IGL01944:Col6a6 APN 9 105,783,909 (GRCm38) missense probably damaging 1.00
IGL01980:Col6a6 APN 9 105,780,985 (GRCm38) missense probably damaging 0.96
IGL02114:Col6a6 APN 9 105,767,199 (GRCm38) critical splice donor site probably null
IGL02129:Col6a6 APN 9 105,736,340 (GRCm38) splice site probably benign
IGL02201:Col6a6 APN 9 105,780,995 (GRCm38) missense probably damaging 1.00
IGL02335:Col6a6 APN 9 105,784,101 (GRCm38) missense probably damaging 1.00
IGL02541:Col6a6 APN 9 105,732,216 (GRCm38) missense probably benign 0.05
IGL02574:Col6a6 APN 9 105,782,191 (GRCm38) missense probably damaging 1.00
IGL02649:Col6a6 APN 9 105,727,170 (GRCm38) critical splice donor site probably null
IGL02852:Col6a6 APN 9 105,784,073 (GRCm38) missense probably damaging 0.99
IGL03278:Col6a6 APN 9 105,709,452 (GRCm38) missense probably benign 0.01
IGL03327:Col6a6 APN 9 105,767,234 (GRCm38) missense possibly damaging 0.90
PIT4519001:Col6a6 UTSW 9 105,732,263 (GRCm38) missense probably benign 0.23
R0042:Col6a6 UTSW 9 105,780,697 (GRCm38) missense possibly damaging 0.89
R0066:Col6a6 UTSW 9 105,702,213 (GRCm38) missense probably damaging 0.99
R0066:Col6a6 UTSW 9 105,702,213 (GRCm38) missense probably damaging 0.99
R0140:Col6a6 UTSW 9 105,702,275 (GRCm38) missense probably damaging 1.00
R0278:Col6a6 UTSW 9 105,767,288 (GRCm38) missense possibly damaging 0.87
R0281:Col6a6 UTSW 9 105,784,116 (GRCm38) missense probably benign 0.13
R0382:Col6a6 UTSW 9 105,755,555 (GRCm38) missense probably damaging 0.98
R0389:Col6a6 UTSW 9 105,784,204 (GRCm38) missense probably benign 0.02
R0421:Col6a6 UTSW 9 105,784,206 (GRCm38) missense probably benign 0.02
R0502:Col6a6 UTSW 9 105,767,351 (GRCm38) missense probably benign 0.04
R0503:Col6a6 UTSW 9 105,767,351 (GRCm38) missense probably benign 0.04
R0600:Col6a6 UTSW 9 105,761,440 (GRCm38) missense probably damaging 1.00
R0626:Col6a6 UTSW 9 105,777,744 (GRCm38) missense probably benign 0.45
R0629:Col6a6 UTSW 9 105,727,165 (GRCm38) splice site probably benign
R0690:Col6a6 UTSW 9 105,709,486 (GRCm38) missense probably benign 0.01
R1155:Col6a6 UTSW 9 105,782,090 (GRCm38) missense possibly damaging 0.64
R1245:Col6a6 UTSW 9 105,748,910 (GRCm38) missense possibly damaging 0.62
R1253:Col6a6 UTSW 9 105,774,303 (GRCm38) missense probably null 0.98
R1263:Col6a6 UTSW 9 105,709,489 (GRCm38) missense probably benign 0.01
R1296:Col6a6 UTSW 9 105,781,091 (GRCm38) missense probably damaging 1.00
R1556:Col6a6 UTSW 9 105,709,473 (GRCm38) missense possibly damaging 0.82
R1600:Col6a6 UTSW 9 105,778,075 (GRCm38) missense probably damaging 1.00
R1612:Col6a6 UTSW 9 105,777,549 (GRCm38) missense probably damaging 1.00
R1613:Col6a6 UTSW 9 105,732,211 (GRCm38) critical splice donor site probably null
R1830:Col6a6 UTSW 9 105,702,270 (GRCm38) missense probably damaging 0.99
R1858:Col6a6 UTSW 9 105,781,102 (GRCm38) missense probably damaging 1.00
R1897:Col6a6 UTSW 9 105,785,744 (GRCm38) missense possibly damaging 0.74
R1944:Col6a6 UTSW 9 105,709,384 (GRCm38) missense probably damaging 1.00
R2366:Col6a6 UTSW 9 105,755,694 (GRCm38) missense probably damaging 1.00
R2484:Col6a6 UTSW 9 105,780,804 (GRCm38) missense probably damaging 0.98
R3079:Col6a6 UTSW 9 105,754,223 (GRCm38) missense probably benign 0.01
R3176:Col6a6 UTSW 9 105,786,230 (GRCm38) missense probably benign 0.01
R3276:Col6a6 UTSW 9 105,786,230 (GRCm38) missense probably benign 0.01
R3429:Col6a6 UTSW 9 105,777,967 (GRCm38) missense probably damaging 1.00
R3716:Col6a6 UTSW 9 105,782,174 (GRCm38) missense probably damaging 0.98
R3809:Col6a6 UTSW 9 105,780,692 (GRCm38) missense probably damaging 1.00
R3978:Col6a6 UTSW 9 105,698,879 (GRCm38) missense probably damaging 0.98
R4087:Col6a6 UTSW 9 105,783,956 (GRCm38) missense possibly damaging 0.68
R4382:Col6a6 UTSW 9 105,783,690 (GRCm38) missense probably damaging 1.00
R4516:Col6a6 UTSW 9 105,698,949 (GRCm38) missense possibly damaging 0.64
R4666:Col6a6 UTSW 9 105,767,342 (GRCm38) missense possibly damaging 0.93
R4905:Col6a6 UTSW 9 105,767,424 (GRCm38) missense probably damaging 1.00
R4923:Col6a6 UTSW 9 105,788,948 (GRCm38) missense probably damaging 1.00
R4951:Col6a6 UTSW 9 105,767,198 (GRCm38) critical splice donor site probably null
R5002:Col6a6 UTSW 9 105,786,093 (GRCm38) missense probably benign 0.00
R5111:Col6a6 UTSW 9 105,709,474 (GRCm38) missense possibly damaging 0.70
R5205:Col6a6 UTSW 9 105,782,033 (GRCm38) missense probably damaging 0.99
R5399:Col6a6 UTSW 9 105,709,107 (GRCm38) missense possibly damaging 0.50
R5475:Col6a6 UTSW 9 105,774,338 (GRCm38) missense probably null 0.79
R5491:Col6a6 UTSW 9 105,738,236 (GRCm38) missense probably damaging 0.98
R5758:Col6a6 UTSW 9 105,761,518 (GRCm38) critical splice acceptor site probably null
R5934:Col6a6 UTSW 9 105,767,075 (GRCm38) missense probably damaging 1.00
R6059:Col6a6 UTSW 9 105,783,917 (GRCm38) missense probably damaging 1.00
R6284:Col6a6 UTSW 9 105,727,227 (GRCm38) splice site probably null
R6425:Col6a6 UTSW 9 105,698,865 (GRCm38) missense probably benign 0.21
R6464:Col6a6 UTSW 9 105,788,953 (GRCm38) start codon destroyed probably null 0.60
R6469:Col6a6 UTSW 9 105,698,691 (GRCm38) missense probably damaging 0.97
R6520:Col6a6 UTSW 9 105,785,825 (GRCm38) missense possibly damaging 0.89
R6552:Col6a6 UTSW 9 105,698,913 (GRCm38) missense probably damaging 1.00
R6750:Col6a6 UTSW 9 105,783,680 (GRCm38) missense probably damaging 1.00
R6813:Col6a6 UTSW 9 105,783,941 (GRCm38) missense probably benign 0.32
R7032:Col6a6 UTSW 9 105,767,508 (GRCm38) missense probably damaging 0.96
R7260:Col6a6 UTSW 9 105,783,969 (GRCm38) missense probably benign 0.00
R7472:Col6a6 UTSW 9 105,782,423 (GRCm38) missense probably damaging 1.00
R7541:Col6a6 UTSW 9 105,767,324 (GRCm38) missense probably damaging 1.00
R7640:Col6a6 UTSW 9 105,785,744 (GRCm38) missense possibly damaging 0.74
R7645:Col6a6 UTSW 9 105,767,198 (GRCm38) critical splice donor site probably null
R7716:Col6a6 UTSW 9 105,783,903 (GRCm38) missense possibly damaging 0.84
R7866:Col6a6 UTSW 9 105,689,561 (GRCm38) missense probably damaging 0.96
R7938:Col6a6 UTSW 9 105,780,684 (GRCm38) nonsense probably null
R8016:Col6a6 UTSW 9 105,767,528 (GRCm38) missense possibly damaging 0.73
R8043:Col6a6 UTSW 9 105,699,020 (GRCm38) missense probably damaging 0.98
R8073:Col6a6 UTSW 9 105,781,947 (GRCm38) missense probably benign 0.01
R8082:Col6a6 UTSW 9 105,783,930 (GRCm38) nonsense probably null
R8243:Col6a6 UTSW 9 105,699,269 (GRCm38) missense probably damaging 1.00
R8306:Col6a6 UTSW 9 105,784,073 (GRCm38) missense probably damaging 0.96
R8324:Col6a6 UTSW 9 105,755,654 (GRCm38) missense probably benign 0.25
R8384:Col6a6 UTSW 9 105,755,694 (GRCm38) missense probably damaging 1.00
R8400:Col6a6 UTSW 9 105,774,796 (GRCm38) missense probably damaging 1.00
R8523:Col6a6 UTSW 9 105,774,788 (GRCm38) missense possibly damaging 0.71
R8842:Col6a6 UTSW 9 105,777,967 (GRCm38) missense probably damaging 1.00
R8862:Col6a6 UTSW 9 105,786,149 (GRCm38) missense probably damaging 1.00
R8907:Col6a6 UTSW 9 105,767,329 (GRCm38) missense probably damaging 0.99
R9021:Col6a6 UTSW 9 105,709,546 (GRCm38) missense possibly damaging 0.85
R9088:Col6a6 UTSW 9 105,784,077 (GRCm38) missense probably damaging 0.99
R9178:Col6a6 UTSW 9 105,781,970 (GRCm38) missense probably benign 0.30
R9225:Col6a6 UTSW 9 105,782,238 (GRCm38) missense possibly damaging 0.75
R9340:Col6a6 UTSW 9 105,774,558 (GRCm38) missense probably damaging 1.00
R9342:Col6a6 UTSW 9 105,785,973 (GRCm38) missense probably benign 0.00
R9360:Col6a6 UTSW 9 105,767,487 (GRCm38) missense probably benign 0.00
R9368:Col6a6 UTSW 9 105,786,101 (GRCm38) missense possibly damaging 0.48
R9398:Col6a6 UTSW 9 105,774,626 (GRCm38) missense probably benign 0.40
R9450:Col6a6 UTSW 9 105,784,174 (GRCm38) missense probably benign
R9454:Col6a6 UTSW 9 105,783,860 (GRCm38) missense probably damaging 0.99
R9458:Col6a6 UTSW 9 105,709,162 (GRCm38) missense probably benign 0.01
R9563:Col6a6 UTSW 9 105,695,753 (GRCm38) missense probably benign 0.02
R9568:Col6a6 UTSW 9 105,780,727 (GRCm38) missense possibly damaging 0.58
R9613:Col6a6 UTSW 9 105,739,202 (GRCm38) missense probably benign 0.07
R9664:Col6a6 UTSW 9 105,781,055 (GRCm38) missense probably benign 0.11
R9747:Col6a6 UTSW 9 105,784,040 (GRCm38) missense probably benign 0.29
R9760:Col6a6 UTSW 9 105,782,054 (GRCm38) missense probably damaging 0.99
X0022:Col6a6 UTSW 9 105,699,332 (GRCm38) missense probably damaging 1.00
Z1176:Col6a6 UTSW 9 105,780,952 (GRCm38) missense probably damaging 1.00
Z1177:Col6a6 UTSW 9 105,788,895 (GRCm38) missense probably null 0.24
Z1177:Col6a6 UTSW 9 105,728,255 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTAGTGCAGCCAGTTGACAAAC -3'
(R):5'- CGTGAGCGACCTTTCACTTTAACCC -3'

Sequencing Primer
(F):5'- GCTCCTAATGTTCAGAAGTTCAG -3'
(R):5'- AACCCTGTTCTGCTTTCTATATTG -3'
Posted On 2013-05-29